Connexin mutations in X-linked Charcot-Marie-Tooth disease

Journal Article · Fri Dec 24 04:00:00 EST 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8266101· OSTI ID:5216044

Bergoffen, J ^[1]; Scherer, S S; Wang, S; Scott, M; Bone, L J; Chen, K; Lensch, M W; Fischbeck, K H ^[2]; Paul, D L ^[3]; Change, P F ^[4]

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1. Univ. of Pennsylvania Medical School, Philadelphia, PA (United States)
2. Univ. of Pennsylvania Medical School, PA (United States)
3. Harvard Medical School, Boston, MA (United States)
4. Univ. of Pennsylvania Medical School and Neurology Division, Philadelphia, PA (United States)

X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry techniques, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.

• OSTI ID: 5216044
• Journal Information: Science (Washington, D.C.); (United States), Journal Name: Science (Washington, D.C.); (United States) Vol. 262:5142; ISSN SCIEAS; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CELL CONSTITUENTS
CELL MEMBRANES
CHROMOSOMES
DISEASES
GENE MUTATIONS
GENETIC MAPPING
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MAPPING
MEMBRANE PROTEINS
MEMBRANES
MUTATIONS
MYELIN
NERVOUS SYSTEM DISEASES
ORGANIC COMPOUNDS
PROTEINS
X CHROMOSOME